ClinVar

NM_022830.3(TUT1):c.1672C>T (p.Arg558Trp)

Gene:

TUT1:terminal uridylyl transferase 1, U6 snRNA-specific [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 62576047 (on Assembly GRCh38)
• Chr11: 62343519 (on Assembly GRCh37)

Preferred name:

NM_022830.3(TUT1):c.1672C>T (p.Arg558Trp)

HGVS:

• NC_000011.10:g.62576047G>A
• NM_001367906.1:c.*86C>T
• NM_022830.2:c.1786C>T
• NM_022830.3:c.1672C>TMANE SELECT
• NP_073741.3:p.Arg558Trp
• NC_000011.9:g.62343519G>A

This HGVS expression did not pass validation

Protein change:

R558W

Links:

dbSNP: rs138696433

NCBI 1000 Genomes Browser:

rs138696433

Molecular consequence:

• NM_001367906.1:c.*86C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_022830.3:c.1672C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3